968 resultados para AUTOSOMAL-DOMINANT INHERITANCE


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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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One of the main objectives of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the area of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, three exercises have been organized (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03), with 32, 24 and 17 participant laboratories respectively. The exercise aims to give a general vision by addressing, through the proposal of mock cases, aspects related to the edition of mixture profiles and the statistical treatment. The main conclusions obtained from these exercises may be summarized as follows. Firstly, the data show an increased tendency of the laboratories toward validation of DNA mixture profiles analysis following international recommendations (ISO/IEC 17025: 2005). Secondly, the majority of discrepancies are mainly encountered in stutters positions (53.4%, 96.0% and 74.9%, respectively for the three editions). On the other hand, the results submitted reveal the importance of performing duplicate analysis by using different kits in order to reduce errors as much as possible. Regarding the statistical aspect (GHEP-MIX02 and 03), all participants employed the likelihood ratio (LR) parameter to evaluate the statistical compatibility and the formulas employed were quite similar. When the hypotheses to evaluate the LR value were locked by the coordinators (GHEP-MIX02) the results revealed a minor number of discrepancies that were mainly due to clerical reasons. However, the GHEP-MIX03 exercise allowed the participants to freely come up with their own hypotheses to calculate the LR value. In this situation the laboratories reported several options to explain the mock cases proposed and therefore significant differences between the final LR values were obtained. Complete information concerning the background of the criminal case is a critical aspect in order to select the adequate hypotheses to calculate the LR value. Although this should be a task for the judicial court to decide, it is important for the expert to account for the different possibilities and scenarios, and also offer this expertise to the judge. In addition, continuing education in the analysis and interpretation of mixture DNA profiles may also be a priority for the vast majority of forensic laboratories. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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At fixed bail stations in a large institutional setting in Brazil, the temporal and spatial pattern of usage of the dominant species of ant was studied. The ant Crematogaster cf. magnifica, was found in 91% of sampling points. These studies were conducted using the same points as a previous study of tile then dominant ant. Monomorium pharaonis, which was found to have declined from 93% to 3% spatial point occupation. The frequency of point usage during this study was significantly different from the Poisson distribution for both species, indicating non-random use of space. Crematogaster cf. magnifica was significantly more spatially exclusive than had been documented for M. pharaonis, and the probability of points originally occupied by M. pharaonis later becoming occupied by C. cf. magnifica was in excess of 90%. Temporal bait exploitation patterns of the two species did not differ. These data demonstrate that structural ant communities can change over time without human intervention, although short- term stability is characteristic of the urban dominant ants in subtropical Brazil.

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The aim of this study was to analyse the characteristics of the asymmetries in the dominant and non-dominant limbs when kicking stationary and rolling balls. Ten experienced Brazilian amateur futsal players participated in this study. Each participant performed kicks under two conditions (stationary ball vs. rolling ball) with the dominant and non-dominant limbs (five kicks per condition per limb). We analysed the kicking accuracy, ball and foot velocities, angular joint displacement and velocity. The asymmetry between the dominant and non-dominant limbs was analysed by symmetry index and two-way repeated measures ANOVA. The results did not reveal any interaction between the condition and limb for ball velocity, foot velocity and accuracy. However, kicking with the dominant limb in both kicks showed higher ball velocity (stationary ball: dominant - 24.27 ± 2.21 m · s(-1) and non-dominant - 21.62 ± 2.26 m · s(-1); rolling ball: dominant - 23.88 ± 2.71 m · s(-1) and non-dominant - 21.42 ± 2.25 m · s(-1)), foot velocity (stationary ball: dominant - 17.61 ± 1.87 m · s(-1) and non-dominant - 15.58 ± 2.69 m · s(-1); rolling ball: dominant - 17.25 ± 2.26 m · s(-1) and non-dominant - 14.77 ± 2.35 m · s(-1)) and accuracy (stationary ball: dominant - 1.17 ± 0.84 m and non-dominant - 1.56 ± 1.30 m; rolling ball: dominant - 1.31 ± 0.91 m and non-dominant - 1.97 ± 1.44 m). In addition, the angular joint adjustments were dependent on the limb in both kicks (the kicks with non-dominant limb showed lower hip external rotation than the kicks with the dominant limb), indicating that the hip joint is important in kick performance. In conclusion, the kicks with the non-dominant limb showed different angular adjustments in comparison to kicks with the dominant limb. In addition, kicking a rolling ball with the non-dominant limb showed higher asymmetry for accuracy, indicating that complex kicks are more asymmetric.

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The early phase of post-collisional granitic magmatism in the Camboriu region, south Brazil, is represented by the porphyritic biotite +/- hornblende Rio Pequeno Granite (RPG; 630-620 Ma) and the younger (similar to 610 Ma), equigranular, biotite +/- muscovite Serra dos Macacos Granite (SMG). The two granite types share some geochemical characteristics, but the more felsic SMG constitutes a distinctive group not related to RPG by simple fractionation processes, as indicated by its lower FeOt, TiO2, K2O/Na2O and higher Zr Al2O3, Na2O, Ba and Sr when compared to RPG of similar SiO2 range. Sr-Nd-Pb isotopes require different sources. The SMG derives from old crustal sources, possibly related to the Paleoproterozoic protoliths of the Camboriu Complex, as indicated by strongly negative epsilon Nd-t (-23 to -24) and unradiogenic Pb (e.g., Pb-206/Pb-204 = 16.0-16.3; Pb-207/Pb-204 = 15.3-15.4) and confirmed by previous LA-MC-ICPMS data showing dominant zircon inheritance of Archean to Paleoproterozoic age. In contrast, the RPG shows less negative epsilon Nd-t (-12 to -15) and a distinctive zircon inheritance pattern with no traces of post-1.6 Ga sources. This is indicative of younger sources whose significance in the regional context is still unclear; some contribution of mantle-derived magmas is indicated by coeval mafic dykes and may account for some of the geochemical and isotopic characteristics of the least differentiated varieties of the RPG. The transcurrent tectonics seems to have played an essential role in the generation of mantle-derived magmas despite their emplacement within a low-strain zone. It may have facilitated their interaction with crustal melts which seem to be to a large extent the products of reworking of Paleoproterozoic orthogneisses from the Camboriu Complex. (C) 2012 Elsevier Ltd. All rights reserved.

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Sickness behavior is a set of behavioral changes that are part of an adaptive strategy to overcome infection. Mice that interact with conspecifics displaying sickness behavior also show relevant behavioral changes. In this work we sought to determine the role of sickness behavior display by a dominant mouse as a promoter of hierarchy instability. We treated the dominant mouse within a dyad with lipopolysaccharide (LPS) (400 mu g/kg, i.p.) for three consecutive days and assessed social dominance behavior. Since elder animals display increased inflammatory responses and the behaviors toward conspecifics are influenced by kinship we also assessed whether kinship and age, might influence sickness related hierarchy instability. Our results show that administration of LPS in the dominant mouse promotes social instability within a dyad, and indicates that this instability could be influenced by kinship and age. (C) 2012 Elsevier B.V. All rights reserved.

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Some organ-transplanted patients achieve a state of "operational tolerance" (01) in which graft function is maintained after the complete withdrawal of immunosuppressive drugs. We used a gene panel of regulatory/inflammatory molecules (FOXP3, GATA3, 100, TGFB1, TGFBR1/TBX21, TNF and IFNG) to investigate the gene expression profile in peripheral blood mononuclear cells of renal-transplanted individuals experiencing OT compared to transplanted individuals not displaying OT and healthy individuals (HI). OT subjects showed a predominant regulatory (REG) profile with higher gene expression of GATA3, FOXP3, TGFB1 and TGFB receptor 1 compared to the other groups. This predominant REG gene expression profile displayed stability over time. The significant GATA3 gene and protein expressions in OT individuals suggest that a Th2 deviation may be a relevant pathway to OT. Moreover, the capacity of the REG/INFLAMMA gene panel to discriminate OT by peripheral blood analysis indicates that this state has systemic repercussions. (C) 2011 Elsevier Inc. All rights reserved.